ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 39

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_003705.5(SLC25A12):c.210-21A>G rs2056202 0.76440
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_003705.5(SLC25A12):c.*994C>T rs189758490 0.00001
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His) rs143779282 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) rs121434396 0.00001
NM_003705.5(SLC25A12):c.67-6T>A rs1302626614 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
NM_003705.4(SLC25A12):c.-67_-66GC[7] rs759200327
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met) rs201557997
NM_003705.5(SLC25A12):c.1447-2_1447-1del
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys) rs1685033697
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser) rs2105895501
NM_003705.5(SLC25A12):c.693del (p.Val232fs)

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